DisGeNET - a database of gene-disease associations

rs61755787, PRPH2

N. diseases: 5

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Abnormality of retinal pigmentation

CUI:	C1862475
Disease:	Abnormality of retinal pigmentation

5

0.882

0.120

6

42721866

missense variant

C/T

snv

0.700

Blurred vision

CUI:	C0344232
Disease:	Blurred vision

2

0.882

0.120

6

42721866

missense variant

C/T

snv

0.700

Macular degeneration

CUI:	C0024437
Disease:	Macular degeneration

16

0.882

0.120

6

42721866

missense variant

C/T

snv

0.700

MACULAR DYSTROPHY, PATTERNED, 1

CUI:	C4551999
Disease:	MACULAR DYSTROPHY, PATTERNED, 1

16

0.882

0.120

6

42721866

missense variant

C/T

snv

0.700

obsolete Peripheral retinopathy

CUI:	C4072867
Disease:	obsolete Peripheral retinopathy

5

0.882

0.120

6

42721866

missense variant

C/T

snv

0.700